Discussions

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  In text citation formats and auto-replacement

  hdashnow started Oct 30, 2024 in General

  

  

  

  

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  Web Development Discussion

  laurelhiatt started Oct 8, 2024 in General

  

  

  

  

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  STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179

  laurelhiatt started Oct 29, 2024 in Locus updates and new loci · Closed

  

  

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  Autosomal Dominant Tubulointerstitial Kidney Disease – MUC1

  laurelhiatt started Oct 29, 2024 in Locus updates and new loci · Closed

  

  

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  NAXE: new locus

  hdashnow started Oct 29, 2024 in Locus updates and new loci · Closed

  

  

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  New locus: TAF1 X-linked dystonia-parkinsonism (XDP)

  hdashnow started Mar 26, 2024 in Locus updates and new loci · Closed

  

  

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  FOXL2 pathogenic range check

  hdashnow started Oct 17, 2024 in Locus updates and new loci · Closed

  

  

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  FMR1: which category is exactly 200 repeats, premutation or full?

  hdashnow started Oct 18, 2024 in Locus updates and new loci · Closed

  

  

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  POLG: clarify modifier vs mendelian associations

  hdashnow started Jun 14, 2024 in Locus updates and new loci · Closed

  

  

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  Should we add a field for quality of evidence, or similar?

  hdashnow started Jun 14, 2024 in General · Closed

  

  

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  FGF14 associated with idiopathic downbeat nystagmus at 200–249 repeats

  hdashnow started Mar 22, 2024 in Locus updates and new loci

  

  

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